{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["5(6)"],"submitter":["Byrjalsen A"],"pubmed_abstract":["BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign."],"journal":["Clinical case reports"],"pagination":["876-879"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5458035"],"repository":["biostudies-literature"],"pubmed_title":["Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier."],"pmcid":["PMC5458035"],"pubmed_authors":["Steffensen AY","Byrjalsen A","Wadt K","Gerdes AM","Hansen TVO"],"additional_accession":[]},"is_claimable":false,"name":"Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.","description":"BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Jun","modification":"2020-11-09T08:38:20Z","creation":"2019-03-27T02:46:43Z"},"accession":"S-EPMC5458035","cross_references":{"pubmed":["28588830"],"doi":["10.1002/ccr3.944"]}}